A691T Summary
SCN5A A691T was found in 2 papers (see below) with a total of 23 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A691T is present in 22 out of 280226 alleles in gnomAD (minor allele frequency of 0.007851%). A691T has been functionally characterized in 0 papers. Other variants at the same resdue are A691D .A691G .A691P .A691S .A691T .A691V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A691T Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
15176425 | 2004 | 0 | 0 | 1 | 0 | |
20566482 | 2010 | 0 | 2 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A691T Predictions
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
SIFT |
Sift Score |
PROVEAN Score |
Polyphen2 |
Polyphen2 Score |
eaRate |
blastPssm |
pamScore |
REVEL |
Damaging |
0.041 |
-3.52 |
benign |
0.017 |
0.7622 |
0.51 |
-1 |
0.761 |
A691T has 30 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.
ResidueNumber |
Distance(Å) |
Variants |
676 |
14.7 |
|
677 |
14.2 |
|
678 |
13.7 |
|
679 |
13.2 |
|
680 |
12.6 |
R680C |
681 |
12 |
|
682 |
11.4 |
|
683 |
10.7 |
C683R |
684 |
10.1 |
|
685 |
9.3 |
|
686 |
8.5 |
|
687 |
7.6 |
|
688 |
6.6 |
|
689 |
5.4 |
R689C R689H |
690 |
3.8 |
|
692 |
3.8 |
Q692K |
693 |
5.4 |
R693C R693H |
694 |
6.6 |
Y694C |
695 |
7.6 |
|
696 |
8.5 |
|
697 |
9.3 |
|
698 |
10.1 |
|
699 |
10.7 |
|
700 |
11.4 |
|
701 |
12 |
P701L |
702 |
12.6 |
|
703 |
13.2 |
|
704 |
13.7 |
|
705 |
14.2 |
S705F |
706 |
14.7 |
|